ClinVar for MedGen (Select 336999) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792451.	GRCh38/hg38 Xp11.4(chrX:38297187-38299239)x0 GRCh38: ChrX:38297187-38299239	RPGR		Retinitis pigmentosa 3	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25792442.	GRCh38/hg38 Xp11.4(chrX:38301150-38301469)x0 GRCh38: ChrX:38301150-38301469	RPGR		Retinitis pigmentosa 3	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25792433.	GRCh38/hg38 Xp11.4(chrX:38269073-38287133)x0 GRCh38: ChrX:38269073-38287133	RPGR		Retinitis pigmentosa 3	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25784304.	NM_001034853.2(RPGR):c.2321_2330del (p.Glu774fs) GRCh37: ChrX:38145922-38145931 GRCh38: ChrX:38286669-38286678	RPGR	E774fs	Retinitis pigmentosa 3	Likely pathogenic (Aug 8, 2023)	criteria provided, single submitter
Select item 25053525.	NM_001034853.2(RPGR):c.665del (p.Lys221_Leu222insTer) GRCh37: ChrX:38169981 GRCh38: ChrX:38310728	RPGR		Retinitis pigmentosa 3	Likely pathogenic (Jun 1, 2023)	criteria provided, single submitter
Select item 21385336.	NM_001034853.2(RPGR):c.2792del (p.Glu931fs) GRCh37: ChrX:38145460 GRCh38: ChrX:38286207	RPGR	E931fs	Retinitis pigmentosa 3, Ciliary dyskinesia	Pathogenic (Mar 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18022377.	NM_001034853.2(RPGR):c.1753+2T>G GRCh37: ChrX:38147112 GRCh38: ChrX:38287859	RPGR		X-linked cone-rod dystrophy 1, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, Macular degeneration, X-linked atrophic, Retinitis pigmentosa 3	Likely pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 17101118.	NM_001034853.2(RPGR):c.2073_2080dup (p.Lys694fs) GRCh37: ChrX:38146171-38146172 GRCh38: ChrX:38286918-38286919	RPGR	K694fs	Retinitis pigmentosa 3	Pathogenic (Sep 1, 2022)	no assertion criteria provided
Select item 17091229.	NM_001034853.2(RPGR):c.1813G>T (p.Glu605Ter) GRCh37: ChrX:38146439 GRCh38: ChrX:38287186	RPGR	E543, E604, E605*	Retinitis pigmentosa 3	Likely pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 170740910.	NM_001034853.2(RPGR):c.1302dup (p.Leu435fs) GRCh37: ChrX:38156648-38156649 GRCh38: ChrX:38297395-38297396	RPGR	L373fs, L434fs, L435fs, L445fs	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, Macular degeneration, X-linked atrophic, Retinitis pigmentosa 3, X-linked cone-rod dystrophy 1	Likely pathogenic (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169186711.	NM_001034853.2(RPGR):c.544_545del (p.Val182fs) GRCh37: ChrX:38176643-38176644 GRCh38: ChrX:38317390-38317391	RPGR	V181fs, V182fs, V192fs	Retinitis pigmentosa 3	Pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 168736812.	NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter) GRCh37: ChrX:38145995 GRCh38: ChrX:38286742	RPGR	G753*	not provided, Retinitis pigmentosa 3	Pathogenic/Likely pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168718913.	NM_001034853.2(RPGR):c.2237_2238del (p.Glu746fs) GRCh37: ChrX:38146014-38146015 GRCh38: ChrX:38286761-38286762	RPGR	E746fs	Retinitis pigmentosa 3	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168613214.	NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter) GRCh37: ChrX:38145782 GRCh38: ChrX:38286529	RPGR	G824*	Retinitis pigmentosa 3	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168613115.	NM_001034853.2(RPGR):c.2522_2525dup (p.Glu843fs) GRCh37: ChrX:38145726-38145727 GRCh38: ChrX:38286473-38286474	RPGR	E843fs	Retinitis pigmentosa 3	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168613016.	NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter) GRCh37: ChrX:38145068 GRCh38: ChrX:38285815	RPGR	E1062*	Retinitis pigmentosa 3	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168542817.	NM_001034853.2(RPGR):c.29-2A>G GRCh37: ChrX:38182779 GRCh38: ChrX:38323526	RPGR		Retinitis pigmentosa 3	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168542718.	NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter) GRCh37: ChrX:38146112 GRCh38: ChrX:38286859	RPGR	E714*	Retinitis pigmentosa 3	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168542619.	NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs) GRCh37: ChrX:38145033-38145034 GRCh38: ChrX:38285780-38285781	RPGR	E1075fs	Retinitis pigmentosa 3	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 145542920.	NM_001034853.2(RPGR):c.2679_2680del (p.Glu894fs) GRCh37: ChrX:38145572-38145573 GRCh38: ChrX:38286319-38286320	RPGR	E894fs	Ciliary dyskinesia, Retinitis pigmentosa 3, not provided	Pathogenic (Aug 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141220621.	NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del) GRCh37: ChrX:38145556-38145558 GRCh38: ChrX:38286303-38286305	RPGR	E899del	Ciliary dyskinesia, not provided, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, Macular degeneration, X-linked atrophic, Retinitis pigmentosa 3, X-linked cone-rod dystrophy 1	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 133996022.	NM_001034853.2(RPGR):c.1415-9A>G GRCh37: ChrX:38150746 GRCh38: ChrX:38291493	RPGR		Retinitis pigmentosa 3	Likely pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 133321823.	NM_001034853.2(RPGR):c.1379del (p.Leu460fs) GRCh37: ChrX:38156572 GRCh38: ChrX:38297319	RPGR	L398fs, L459fs, L460fs, L470fs	Retinitis pigmentosa 3	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 127687224.	NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys) GRCh37: ChrX:38146195 GRCh38: ChrX:38286942	RPGR	M686K	not provided, Ciliary dyskinesia, Retinitis pigmentosa 3, Macular degeneration, X-linked atrophic, X-linked cone-rod dystrophy 1, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127577925.	NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter) GRCh37: ChrX:38146034 GRCh38: ChrX:38286781	RPGR	E740*	not provided, Retinitis pigmentosa 3, Ciliary dyskinesia	Pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121392626.	NM_001034853.2(RPGR):c.665T>G (p.Leu222Ter) GRCh37: ChrX:38169981 GRCh38: ChrX:38310728	RPGR	L221, L222, L232*	Retinitis pigmentosa 3	Pathogenic (Jun 23, 2021)	criteria provided, single submitter
Select item 121392527.	NM_001034853.2(RPGR):c.897T>A (p.Tyr299Ter) GRCh37: ChrX:38163925 GRCh38: ChrX:38304672	RPGR	Y298, Y299, Y309*	Retinitis pigmentosa 3	Pathogenic (Jun 23, 2021)	criteria provided, single submitter
Select item 121392428.	NM_001034853.2(RPGR):c.934+2T>C GRCh37: ChrX:38163886 GRCh38: ChrX:38304633	RPGR		Retinitis pigmentosa 3	Pathogenic (Jun 22, 2021)	criteria provided, single submitter
Select item 121392329.	NM_001034853.2(RPGR):c.920C>A (p.Thr307Lys) GRCh37: ChrX:38163902 GRCh38: ChrX:38304649	RPGR	T306K, T307K, T317K	Retinitis pigmentosa 3	Uncertain significance (Jun 22, 2021)	criteria provided, single submitter
Select item 121392230.	NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter) GRCh37: ChrX:38150243 GRCh38: ChrX:38290990	RPGR	S452, S513, S514, S524	Retinitis pigmentosa 3	Pathogenic (Jun 22, 2021)	criteria provided, single submitter
Select item 121392131.	NM_001034853.2(RPGR):c.2078_2148dup (p.Gln717delinsArgArgAsnTer) GRCh37: ChrX:38146103-38146104 GRCh38: ChrX:38286850-38286851	RPGR		Retinitis pigmentosa 3	Pathogenic (Jun 22, 2021)	criteria provided, single submitter
Select item 121392032.	NM_001034853.2(RPGR):c.779-2A>G GRCh37: ChrX:38164045 GRCh38: ChrX:38304792	RPGR		Retinitis pigmentosa 3	Pathogenic (Jun 22, 2021)	criteria provided, single submitter
Select item 121235233.	NM_001034853.2(RPGR):c.2793G>A (p.Glu931=) GRCh37: ChrX:38145459 GRCh38: ChrX:38286206	RPGR		Ciliary dyskinesia, Retinitis pigmentosa 3, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, X-linked cone-rod dystrophy 1, Macular degeneration, X-linked atrophic, not provided	Likely benign (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117269734.	NM_001034853.2(RPGR):c.2587G>T (p.Glu863Ter) GRCh37: ChrX:38145665 GRCh38: ChrX:38286412	RPGR	E863*	Retinitis pigmentosa 3	Uncertain significance (May 25, 2021)	criteria provided, single submitter
Select item 117269635.	NM_001034853.2(RPGR):c.2455_2468dup (p.Lys823_Gly824insTer) GRCh37: ChrX:38145783-38145784 GRCh38: ChrX:38286530-38286531	RPGR		Retinitis pigmentosa 3	Uncertain significance (May 25, 2021)	criteria provided, single submitter
Select item 117269536.	NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val) GRCh37: ChrX:38150671 GRCh38: ChrX:38291418	RPGR	G432V, G493V, G494V, G504V	not provided, Ciliary dyskinesia, Retinitis pigmentosa 3	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117269437.	NM_001034853.2(RPGR):c.736_745dup (p.Ala249fs) GRCh37: ChrX:38169900-38169901 GRCh38: ChrX:38310647-38310648	RPGR	A248fs, A249fs, A259fs	Retinitis pigmentosa 3	Pathogenic (May 25, 2021)	criteria provided, single submitter
Select item 106578638.	NM_001034853.2(RPGR):c.310G>A (p.Glu104Lys) GRCh37: ChrX:38180280 GRCh38: ChrX:38321027	RPGR	E104K, E114K, G104R	Retinitis pigmentosa 3	Uncertain significance (Apr 8, 2021)	criteria provided, single submitter
Select item 106577939.	NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter) GRCh37: ChrX:38146181 GRCh38: ChrX:38286928	RPGR	E691*	Retinitis pigmentosa 3, Ciliary dyskinesia	Pathogenic/Likely pathogenic (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106574140.	NM_001034853.2(RPGR):c.3097dup (p.Glu1033fs) GRCh37: ChrX:38145154-38145155 GRCh38: ChrX:38285901-38285902	RPGR	E1033fs	Retinitis pigmentosa 3	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 106570541.	NM_001034853.2(RPGR):c.778+1del GRCh37: ChrX:38169867 GRCh38: ChrX:38310614	RPGR		Retinitis pigmentosa 3	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 106568942.	NM_001034853.2(RPGR):c.1754-3C>G GRCh37: ChrX:38146501 GRCh38: ChrX:38287248	RPGR		Retinitis pigmentosa 3, Ciliary dyskinesia	Uncertain significance (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106565643.	NM_001034853.2(RPGR):c.1880C>A (p.Ser627Ter) GRCh37: ChrX:38146372 GRCh38: ChrX:38287119	RPGR	S565, S626, S627*	Retinitis pigmentosa 3	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 106565144.	NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter) GRCh37: ChrX:38182157 GRCh38: ChrX:38322904	RPGR	Q66, Q76	not provided, Retinitis pigmentosa 3	Likely pathogenic (Apr 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104816945.	NM_001034853.2(RPGR):c.2008_2017del (p.Gln670fs) GRCh37: ChrX:38146235-38146244 GRCh38: ChrX:38286982-38286991	RPGR	Q670fs	Retinitis pigmentosa 3	Likely pathogenic (Jan 30, 2021)	criteria provided, single submitter
Select item 104816846.	NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs) GRCh37: ChrX:38145665-38145666 GRCh38: ChrX:38286412-38286413	RPGR	E863fs	Retinitis pigmentosa 3, Ciliary dyskinesia	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 104812347.	NM_001034853.2(RPGR):c.2819_2838dup (p.Glu947fs) GRCh37: ChrX:38145413-38145414 GRCh38: ChrX:38286160-38286161	RPGR	E947fs	Retinitis pigmentosa 3	Likely pathogenic (Jan 30, 2021)	criteria provided, single submitter
Select item 98939248.	NM_001034853.2(RPGR):c.2457_2460del (p.Glu820fs) GRCh37: ChrX:38145792-38145795 GRCh38: ChrX:38286539-38286542	RPGR	E820fs	Retinitis pigmentosa 3	Pathogenic (Dec 21, 2020)	criteria provided, single submitter
Select item 98939149.	NM_001034853.2(RPGR):c.2470_2471del (p.Gly824fs) GRCh37: ChrX:38145781-38145782 GRCh38: ChrX:38286528-38286529	RPGR	G824fs	Retinitis pigmentosa 3	Pathogenic (Dec 21, 2020)	criteria provided, single submitter
Select item 98939050.	NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs) GRCh37: ChrX:38145314-38145315 GRCh38: ChrX:38286061-38286062	RPGR	E980fs	not provided, Retinitis pigmentosa, Retinitis pigmentosa 3	Pathogenic/Likely pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97599051.	NM_001034853.2(RPGR):c.469_469+5del GRCh37: ChrX:38178077-38178082 GRCh38: ChrX:38318824-38318829	RPGR		Retinitis pigmentosa 3	Likely pathogenic (Jul 16, 2019)	criteria provided, single submitter
Select item 97514952.	NM_001034853.2(RPGR):c.2627_2648dup (p.Glu884fs) GRCh37: ChrX:38145603-38145604 GRCh38: ChrX:38286350-38286351	RPGR	E884fs	Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97514853.	NM_001034853.2(RPGR):c.2509G>T (p.Glu837Ter) GRCh37: ChrX:38145743 GRCh38: ChrX:38286490	RPGR	E837*	Ciliary dyskinesia	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 97514754.	NM_001034853.2(RPGR):c.2501del (p.Glu834fs) GRCh37: ChrX:38145751 GRCh38: ChrX:38286498	RPGR	E834fs	Ciliary dyskinesia, not provided	Pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97514655.	NM_001034853.2(RPGR):c.2425G>T (p.Glu809Ter) GRCh37: ChrX:38145827 GRCh38: ChrX:38286574	RPGR	E809*	Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97514556.	NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter) GRCh37: ChrX:38145869 GRCh38: ChrX:38286616	RPGR	E795*	Retinitis pigmentosa	Likely pathogenic (Apr 1, 2021)	criteria provided, single submitter
Select item 97514457.	NM_001034853.2(RPGR):c.2362_2366del (p.Glu788fs) GRCh37: ChrX:38145886-38145890 GRCh38: ChrX:38286633-38286637	RPGR	E788fs	Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97514358.	NM_001034853.2(RPGR):c.2327_2354del (p.Lys776fs) GRCh37: ChrX:38145898-38145925 GRCh38: ChrX:38286645-38286672	RPGR	K776fs	Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97514259.	NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs) GRCh37: ChrX:38145997-38146000 GRCh38: ChrX:38286744-38286747	RPGR	K751fs	Ciliary dyskinesia, not provided	Pathogenic (Dec 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97514160.	Single allele GRCh37: ChrX:35820200-38547007	CFAP47, CXorf22, CXorf30, CYBB, DYNLT3, FAM47C, H2AP, LANCL3, MAGEB16, OTC, PRRG1, RPGR, SRPX, SYTL5, TSPAN7, XK		Retinitis pigmentosa 3	Pathogenic	no assertion criteria provided
Select item 97514061.	NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter) GRCh37: ChrX:38145092 GRCh38: ChrX:38285839	RPGR	E1054*	Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97513962.	NM_001034853.2(RPGR):c.2098_2101del (p.Glu700fs) GRCh37: ChrX:38146151-38146154 GRCh38: ChrX:38286898-38286901	RPGR	E700fs	Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97513863.	NM_001034853.2(RPGR):c.2027_2078dup (p.Glu693_Lys694insGlyGlyGluArgGlnGlyTer) GRCh37: ChrX:38146173-38146174 GRCh38: ChrX:38286920-38286921	RPGR		Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97513764.	NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter) GRCh37: ChrX:38146246 GRCh38: ChrX:38286993	RPGR	W669*	Ciliary dyskinesia	Pathogenic (Jun 15, 2022)	criteria provided, single submitter
Select item 97513665.	NM_001034853.2(RPGR):c.1926dup (p.Ser643fs) GRCh37: ChrX:38146325-38146326 GRCh38: ChrX:38287072-38287073	RPGR	S643fs	not provided, Retinitis pigmentosa	Pathogenic/Likely pathogenic (Apr 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 97513566.	NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter) GRCh37: ChrX:38146465 GRCh38: ChrX:38287212	RPGR	S534, S595, S596*	Ciliary dyskinesia	Pathogenic (Aug 7, 2022)	criteria provided, single submitter
Select item 97513467.	NM_001034853.2(RPGR):c.1711C>T (p.Gln571Ter) GRCh37: ChrX:38147156 GRCh38: ChrX:38287903	RPGR	Q509, Q570, Q571*	Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97513368.	NM_001034853.2(RPGR):c.1375_1376del (p.Val459fs) GRCh37: ChrX:38156575-38156576 GRCh38: ChrX:38297322-38297323	RPGR	V397fs, V458fs, V459fs, V469fs	Retinitis pigmentosa 3	Pathogenic	no assertion criteria provided
Select item 97513269.	NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs) GRCh37: ChrX:38158237-38158238 GRCh38: ChrX:38298984-38298985	RPGR	L405fs, L406fs, L416fs	not provided	Pathogenic (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97513170.	NM_001034853.2(RPGR):c.778+3A>T GRCh37: ChrX:38169865 GRCh38: ChrX:38310612	RPGR		Retinitis pigmentosa 3	Uncertain significance	no assertion criteria provided
Select item 97513071.	NM_001034853.2(RPGR):c.619+4A>G GRCh37: ChrX:38176565 GRCh38: ChrX:38317312	RPGR		Retinitis pigmentosa 3	Uncertain significance	no assertion criteria provided
Select item 97512972.	NM_001034853.2(RPGR):c.619+2T>A GRCh37: ChrX:38176567 GRCh38: ChrX:38317314	RPGR		Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97512873.	NM_001034853.2(RPGR):c.322_324del (p.Val108del) GRCh37: ChrX:38178227-38178229 GRCh38: ChrX:38318974-38318976	RPGR	V107del, V108del, V118del	Retinitis pigmentosa 3	Uncertain significance	no assertion criteria provided
Select item 97512774.	NM_001034853.2(RPGR):c.247G>A (p.Ala83Thr) GRCh37: ChrX:38182106 GRCh38: ChrX:38322853	RPGR	A83T, A93T	not provided	Uncertain significance (Dec 4, 2017)	criteria provided, single submitter
Select item 97512675.	NM_001034853.2(RPGR):c.173T>A (p.Met58Lys) GRCh37: ChrX:38182180 GRCh38: ChrX:38322927	RPGR	M58K, M68K	Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97512576.	NM_001034853.2(RPGR):c.122C>A (p.Ser41Ter) GRCh37: ChrX:38182684 GRCh38: ChrX:38323431	RPGR	S41, S51	Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97512477.	NM_001034853.2(RPGR):c.2971del (p.Glu991fs) GRCh37: ChrX:38145281 GRCh38: ChrX:38286028	RPGR	E991fs	Ciliary dyskinesia, not provided	Pathogenic/Likely pathogenic (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97512378.	NM_001034853.2(RPGR):c.2966del (p.Glu989fs) GRCh37: ChrX:38145286 GRCh38: ChrX:38286033	RPGR	E989fs	Ciliary dyskinesia, not provided	Pathogenic (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97512279.	NM_001034853.2(RPGR):c.2945_2964del (p.Glu982fs) GRCh37: ChrX:38145288-38145307 GRCh38: ChrX:38286035-38286054	RPGR	E982fs	Retinitis pigmentosa 3	Pathogenic	no assertion criteria provided
Select item 97512180.	NM_001034853.2(RPGR):c.2938_2959dup (p.Glu987fs) GRCh37: ChrX:38145292-38145293 GRCh38: ChrX:38286039-38286040	RPGR	E987fs	Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97512081.	NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter) GRCh37: ChrX:38145387 GRCh38: ChrX:38286134	RPGR	W955*	Ciliary dyskinesia	Pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 97511982.	NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs) GRCh37: ChrX:38145413-38145414 GRCh38: ChrX:38286160-38286161	RPGR	E947fs	Ciliary dyskinesia, not provided	Pathogenic/Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97511883.	NM_001034853.2(RPGR):c.2761G>C (p.Gly921Arg) GRCh37: ChrX:38145491 GRCh38: ChrX:38286238	RPGR	G921R	Retinitis pigmentosa 3	Uncertain significance	no assertion criteria provided
Select item 97511784.	NM_001034853.2(RPGR):c.2731G>T (p.Glu911Ter) GRCh37: ChrX:38145521 GRCh38: ChrX:38286268	RPGR	E911*	Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 97511685.	NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3]) GRCh37: ChrX:38145507-38145508 GRCh38: ChrX:38286254-38286255	RPGR		Ciliary dyskinesia, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97511586.	NM_001034853.2(RPGR):c.8del (p.Glu3fs) GRCh37: ChrX:38186613 GRCh38: ChrX:38327360	RPGR	E3fs	Retinitis pigmentosa 3	Likely pathogenic	no assertion criteria provided
Select item 93230487.	NM_001034853.2(RPGR):c.470-73_619+1581del GRCh37: ChrX:38174988-38176791 GRCh38: ChrX:38315735-38317538	RPGR		Retinitis pigmentosa 3	Pathogenic (Dec 20, 2017)	criteria provided, single submitter
Select item 93196088.	NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys) GRCh37: ChrX:38144795 GRCh38: ChrX:38285542	RPGR		Retinitis pigmentosa 3	Likely pathogenic (Aug 22, 2019)	criteria provided, single submitter
Select item 93143189.	NM_001034853.2(RPGR):c.457G>A (p.Ala153Thr) GRCh37: ChrX:38178094 GRCh38: ChrX:38318841	RPGR	A163T, A152T, A153T	Retinitis pigmentosa 3	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 93094990.	NM_001034853.2(RPGR):c.1506+4del GRCh37: ChrX:38150642 GRCh38: ChrX:38291389	RPGR		Retinitis pigmentosa 3	Uncertain significance (Mar 25, 2020)	criteria provided, single submitter
Select item 93083091.	NM_001034853.2(RPGR):c.2340_2341del (p.Arg780fs) GRCh37: ChrX:38145911-38145912 GRCh38: ChrX:38286658-38286659	RPGR	R780fs	Retinitis pigmentosa 3	Pathogenic (Oct 15, 2018)	criteria provided, single submitter
Select item 87228392.	NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs) GRCh37: ChrX:38146379-38146380 GRCh38: ChrX:38287126-38287127	RPGR	E562fs, E624fs, E623fs	Ciliary dyskinesia, not provided	Pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87143793.	NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs) GRCh37: ChrX:38145623-38145624 GRCh38: ChrX:38286370-38286371	RPGR	E877fs	Ciliary dyskinesia, not provided, Retinitis pigmentosa 3	Pathogenic/Likely pathogenic (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87112994.	NM_001034853.2(RPGR):c.2845del (p.Glu949fs) GRCh37: ChrX:38145407 GRCh38: ChrX:38286154	RPGR	E949fs	Ciliary dyskinesia, not provided	Pathogenic (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87112895.	NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs) GRCh37: ChrX:38145335-38145336 GRCh38: ChrX:38286082-38286083	RPGR	E973fs	not provided, Retinitis pigmentosa 3	Pathogenic/Likely pathogenic (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86721396.	NM_001034853.2(RPGR):c.2568dup (p.Lys857fs) GRCh37: ChrX:38145683-38145684 GRCh38: ChrX:38286430-38286431	RPGR	K857fs	Retinal dystrophy, Ciliary dyskinesia	Pathogenic (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86721197.	NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs) GRCh37: ChrX:38145224-38145225 GRCh38: ChrX:38285971-38285972	RPGR	E1010fs	not provided, Ciliary dyskinesia, Retinal dystrophy, Retinitis pigmentosa 3	Pathogenic (Mar 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 86716098.	NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter) GRCh37: ChrX:38145833 GRCh38: ChrX:38286580	RPGR	E807*	Ciliary dyskinesia, Retinal dystrophy	Pathogenic/Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86714399.	NM_001034853.2(RPGR):c.2403_2406del (p.Glu802fs) GRCh37: ChrX:38145846-38145849 GRCh38: ChrX:38286593-38286596	RPGR	E802fs	not provided, Retinal dystrophy	Pathogenic (Apr 24, 2019)	criteria provided, multiple submitters, no conflicts
Select item 867138100.	NM_001034853.2(RPGR):c.2892_2893del (p.Glu965fs) GRCh37: ChrX:38145359-38145360 GRCh38: ChrX:38286106-38286107	RPGR	E965fs	Retinal dystrophy	Pathogenic (Apr 19, 2019)	criteria provided, single submitter

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